Implications of mosaicism in variant interpretation: A case of a de novo homozygous NF1 variant.

doi:10.1016/j.ejmg.2021.104236

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Article

Implications of mosaicism in variant interpretation: A case of a de novo homozygous NF1 variant.

European journal of medical genetics - 1 Jul 2021

Alghamdi Malak, Monies Dorota, Alsohime Fahad, Temsah Hani, Almodaihsh Fahad, Aldawasri Mana, Alsultan Abdulrahman, Alkuraya Fowzan S

Abstract excerpt

Neurofibromatosis type 1 is a common multisystem autosomal dominant syndrome caused by pathogenic heterozygous variants in the neurofibromin gene (NF1). It is associated with a substantially increased cancer risk. Mosaicism for NF1 has been clinically well-established for "second hit" variants in skin lesions and tumor tissues. Here, we report on a 3-month-old boy with multiple café au lait macules (CAMs) and...

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PMID: 33965620
DOI: 10.1016/j.ejmg.2021.104236

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.